Varaico: Literature-Extracted Genetic Variants

PIEZO1

516 papers

RefSeq Summary

The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a ho...

Pfam Domains

Piezo_TM1-24aa 26–707UCSCPiezo TM1-24

Piezo_TM25-28aa 1136–1465UCSCPiezo TM25-28

THU_Piezo1aa 1684–1807UCSCPiezo1-like, transmembrane helical unit

Piezo_THU9_anchoraa 1958–2195UCSCPiezo, THU9 and anchor domain

Piezo_capaa 2232–2519UCSCPiezo non-specific cation channel, cap domain

Gene Aliases

HGNC Name

piezo type mechanosensitive ion channel component 1

HGNC Previous Symbol

FAM38A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142864.4

p.Q2255*

c.6763C>T

Surrounding Variants

1 paper

NM_001142864.4

p.E2263K

c.6787G>A

7 papers

NM_001142864.4

p.I2265V

c.6793A>G

6 papers

NM_001142864.4

p.V2266I

c.6796G>A

1 paper

NM_001142864.4

p.T2267M

c.6800C>T

1 paper

NM_001142864.4

p.A2268_Q2269ins6

c.6802_6806ins18

1 paper

NM_001142864.4

p.I2270L

c.6808A>C

7 papers

NM_001142864.4

p.I2270T

c.6809T>C

1 paper

NM_001142864.4

p.A2268_I2270del3

c.6802_6809del9

1 paper

NM_001142864.4

p.S2274S

c.6822C>T

1 paper

NM_001142864.4

p.G2275R

c.6823G>C

1 paper

NM_001142864.4

p.G2275R

c.6823G>A

8 papers

NM_001142864.4

p.L2277M

c.6829C>A